The Long Awaited DNA Results: Part 1 (because the whole report is 13 pages long..!)

Kerissa • October 1, 2013

Okay, here are the nuclear mitochondrial exome sequencing results!  BEWARE!!  The following may be a little technical..  And I’m still trying to process things myself.

I wasn’t expecting them to find so many mutations!  23 were found in all….!  That’s horrible.. :

You want to hear something a little scary?  The lab found a mutation in the RYR1 (ryanodine receptor 1) gene which is associated with things like central core disease , minicore myopathy with external ophthalmoplegia , and malignant hyperthermia which can be fatal.

So the medical director of Courtagen (Dr. Boles) said I “am at risk for malignant hyperthermia , including potentially serious/lethal complications under anesthesia.”

Wait till my pain dr. (who is an anesthesiologist) hears about this!  Dr. Boles wrote that “it is prudent to consider this patient (me!) as affected with MH.”  He said my parents and siblings should be considered to be at high risk of developing MH as well until proven otherwise.

I also have a mutation in the GARS (glycyl-tRNA synthetase) gene which can cause things like Charcot-Marie-Tooth disease , distal hereditary motor neuropathy , and other disorders like those.  My variant, P.K102R, is “rare and predicted to be damaging by algorithms of protein function.”

One of Courtagen’s physicians will be contacting me hopefully by tomorrow to further discuss the report.  I have a lot of questions!  The dr. even forwarded my questions to Dr. Boles—I’m excited to see what he says!

Part 2 of these results will come soon..

October prayer request

By Kerissa Lee • October 19, 2025
Dear friends, At the beginning of October, I started taking a new medication for the autoimmune disease. I thought I was tolerating it just fine, but after several days passed, I began experiencing nausea, loss of appetite, weakness all over, and increased pain. 🙁 It’s like I’m experiencing another “mito crash.” I found out that this specific lupus medication affects mitochondria. That is, it causes an overproduction of reactive oxygen species (ROS). This, in turn, causes cell damage and oxidative stress. I sure wish the rheumatologists would have known about this before prescribing. But I have to remember that Mitochondrial DNA Depletion Syndrome is rare, and they’re not “mito experts.” Anyways, the last time I felt like this was back in May.. I’m so grateful to God that I haven’t needed to be hospitalized from this, but at the same time, I’m also sad that this happened at all, especially because I had such a nice stretch of stable health. I’d really appreciate your prayers, that this muscle weakness can resolve soon, and that this increased pain all over will get back to my baseline. Every time I have a “mito crash,” it feels like I’m fighting the flu which always sucks. The pain has been hard to bear. And whenever I’m in the thick of it, it’s difficult to remember that this too will eventually pass. 😢 Pray that I will endure and follow Jesus’ example like this passage from Hebrews 12:1-2– “Let us run with endurance the race that is set before us, looking to Jesus, the founder and perfecter of our faith, who for the joy that was set before him endured the cross...” Thank you all so much for praying for me. ❤️

Thank you! (+ a prayer request)

By Kerissa Lee • October 4, 2025
"Count it all joy, my brothers, when you meet trials of various kinds, for you know that the testing of your faith produces steadfastness." James 1:2-3

Praises & Prayer Requests

By Kerissa Lee • September 3, 2025
"The steadfast love of the Lord never ceases; his mercies never come to an end; they are new every morning; great is your faithfulness." Lamentations 3:22-23